1.Survival and immune response of rural HIV/AIDS patients after free antiretroviral therapy
Ying-Ying DING ; Wang-Jin JIA ; Jin-Sheng WANG ; Shao-Liang DONG ; Qing-Hai YANG ; Ren-Yi ZHOU ; Shu-Xia QU ; Li-Xing LU ; Jun WEI ; Xiao-Chun QIAO ; Mei-Yang GAO ; Xiao-Li GUO ; Tie-Jun ZHANG ; Zun-You WU ; Na HE
Chinese Journal of Epidemiology 2008;29(12):1176-1180
Objective To assess the adherence,immunologic and survival responses in HIV-infected patients receiving free antiretroviral therapy (ART). Methods All adult HIV-infected patients in Wenxi county who started antiretroviral treatment (ART) between 01 July 2001 and 31 December 2006 and aged above 18 years were included in this study. Epidemiological survey and laboratory tests were performed before,0.5 months after, 1 months after, 2 months after and every 3 months after initiation of ART to recognize the adherence, efficacy (CD4+ T cell counts) and survival to the regimens. Results The median follow-up time period was 16.5 months (Interquartile: 15.5-20.8 months). At baseline, the median of CD4+ T cell counts were 154 cells/μl (Interquartile: 81-212 cells/μl). Treatment was effective in most of the patients, the CD4+ T cell count of patients increased after the initiation of ART. The maximum increase was recorded at month 3, from the median of 154 cells/μl to 220 cells/μl (P<0.001) ,and thereafter the count remained stable. When comparing with patients with baseline CD4+ T cell count≥100 cells/μl, those with baseline CD4+ T cell count < 100 cells/μl showed a higher mean increase in the first three months of treatment. The cumulative probability rates of remaining alive were 0.94,0.88 and 0.87 at 3,12,24 months, respectively. In multivariate Cox's proportional hazard models, after adjustment for the type ofinitial regimens (NVP vs. EFV/IDV), CD4+T cell count of less than 50 cells/μl (vs. 50 cells/μl or more) was strongly associated with death hazard ratio 0.21 (95% CI:0.06-0.68). Conclusion Our data showed that ART was effective for improving immunologic response of adult patients with HIV/AIDS. CD4+ T cell count at initiation was associated with survival time in patients starting ART,suggesting that monitoring of CD4+ T count should be strengthened to early initiate antiretroviral therapy for HIV-infected patients.
2.A novel PAX9 variant in a Chinese family with non-syndromic oligodontia and genotype-phenotype analysis of PAX9 variants
Zhanyun JIN ; Junjia GUO ; Yunyun YUAN ; Lingqiang MENG ; Hui LI ; Ya ZHAO ; Jiabao REN ; Yongping MA ; Zun-Sheng XIAO ; Hong ZHANG ; Ling YANG ; Chenyun DOU ; Xiaoxue WANG ; Jinmei WANG ; Wenjing SHEN
West China Journal of Stomatology 2024;42(5):581-592
Objective This study aimed to identify PAX9 variants in non-syndromic tooth agenesis families of Chi-na,as well as to analyze the genotype-phenotype of non-syndromic tooth agenesis caused by PAX9 variants,which can provide a basis for the genetic diagnosis of tooth agenesis.Methods We collected the data of 44 patients with non-syn-dromic oligodontia who underwent treatment at Stomatological Hospital of Hebei Medical University between 2018 and 2023.Whole-exome sequencing was performed on the peripheral blood of the proband and its core family members,and the variants were verified by Sanger sequencing.Pathogenicity analysis and function prediction of the variants were per-formed using bioinformatics tools.The correlation between the genotype of PAX9 variant and its corresponding pheno-type was examined by reviewing 55 publications retrieved from PubMed.The studies involved 232 tooth agenesis pa-tients with PAX9 variants.Results A novel PAX9 c.447delG(p.Pro150Argfs*62)and a reported PAX9 c.406C>T(p.Gln136*)were identified in two Chinese families.Through bioinformatics analysis and three-dimensional structural mod-eling,we postulated that the frameshift variant was pathogenic.The outcome was the premature cessation of PAX9 pro-tein,which caused severe structural and functional deficiencies.Summarizing the PAX9 genotype-phenotype relationship revealed that patients carrying the PAX9 variant commonly led to loss of the second molars.Conclusion We identified the novel PAX9 c.447delG(p.Pro150Argfs*62)in a Chinese family of non-syndromic oligodontia,expanding the known variant spectrum of PAX9.The most susceptible tooth position for PAX9 variants of tooth agenesis was the second mo-lars and the deciduous molars during the deciduous dentition.